SSIEM 2022 Symposium

Our previous presentation projects led us to be invited to speak at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium in Freiburg, Germany, held from Aug. 30 to Sept. 2. The aim of the SSIEM is to foster the study of inherited metabolic disorders and related topics.

Inside were several halls where speeches were happening simultaneously. The ground floor had stunning booths by companies featuring their latest products and services. It was a large event related to everything genetics.

Parent Perspective Presentation

Our speech was a part of the “Transformative Science in Action: Gene Therapy for AADC Deficiency” symposium. It featured three doctors dedicated to AADC deficiency: Paul Wuh-Liang Hwu, from National Taiwan University Hospital; Agathe Roubertie, from Hôpital Gui de Chauliac Montpellier; and Volker Mall, from the Technical University of Munich.

Because these highly regarded healthcare professionals were speaking, the audience was composed of other passionate healthcare professionals who wanted to learn more about rare diseases, AADC deficiency, and gene therapy.

We were scheduled to speak in the middle. Our heart rate was probably visible through the collar of our shirts as we presented alongside highly regarded doctors and in front of hundreds more. However, we believe in our mission and were honored for the opportunity.

My wife began the presentation strong and confident. It made me want to do the same. We shared our perspectives as parents by discussing the challenges of receiving a diagnosis, the consequences of misdiagnosis, and the benefits of receiving a correct diagnosis early. Our diagnostic journey is shared by many in our ADDC deficiency community and the rare disease community as a whole.

The doctors’ speeches provided an overview of the long-term efficacy and safety data from the eladocagene exuparvovec clinical trials in patients with AADC deficiency. Long-term data came from Taiwan, and the more recent data was from France. After the speeches concluded, the panel closed with a question-and-answer session with the audience.

Any of the audience members who were outside the venue after the presentation were able to see the results firsthand. Our daughter was excited to be in a new place, plus she was feeling the effects of the tasty sugary snacks. She greeted, danced, and smiled. She seemed to love the attention and showing off her newly learned skills.

Hope for AADC Deficiency

The audience was supportive, which gives AADC deficiency and the rare disease community so much hope. The healthcare professionals who attended our event wanted to improve their diagnostic practice and hear from parents. They also wanted to learn about the latest diagnostic methods and future treatments available. Their attendance meant so much to us.

During the symposium, we met people from other rare disease organizations and advocates and saw others we know well. Before we had to catch a plane back home to Bangkok, we got the chance to see the old city and eat delicious food. It was an amazing vacation and another beautiful destination.